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Noonan syndrome - Symptom

Symptoms:

  • Delayed puberty
  • Down-slanting or wide-set eyes
  • Hearing loss (varies)
  • Low-set or abnormally shaped ears
  • Mild mental retardation (only in about 25% of cases)
  • Sagging eyelids (ptosis)
  • Short stature
  • Small penis
  • Undescended testicles
  • Unusual chest shape (usually a sunken chest called pectus excavatum)
  • Webbed and short-appearing neck

Signs and tests:

The health care provider will perform a physical exam. This may show signs of congenital heart disease (especially pulmonary stenosis, occasionally ASD).

Tests depend on the symptoms, but may include:

  • Platelet count
  • Blood clotting factor test
  • EKG, chest x-ray, or echocardiogram
  • Hearing tests

Genetic testing can help diagnose this syndrome.

  • Reviewed last on: 8/4/2011
  • Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Rapaport R. Hypofunction of the Ovaries. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 587.

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